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GeneBe API Showcase
This page demonstrates how to use the GeneBe API to query variant information. The API provides programmatic access to genomic annotations and variant data.
API presented here should be used for checking single variants. If you want to check many variants at once, please use other API endpoints that you will find in the documentation.
Documentation & Advanced Usage
• Complete API documentation:docs.genebe.net/docs/api/overview/
• Interactive endpoint tester:api.genebe.net/cloud/gb-api-doc/swagger-ui/
• Python client for pandas:pypi.org/project/genebe/
• Java CLI for VCF files:github.com/pstawinski/genebe-cli
• All tools documented at:docs.genebe.net
API Request Examples for Variant: 11-65130692-T-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=11&pos=65130692&ref=T&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "11",
"pos": 65130692,
"ref": "T",
"alt": "A",
"effect": "missense_variant",
"transcript": "ENST00000377190.8",
"consequences": [
{
"aa_ref": "H",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SYVN1",
"gene_hgnc_id": 20738,
"hgvs_c": "c.1073A>T",
"hgvs_p": "p.His358Leu",
"transcript": "NM_172230.3",
"protein_id": "NP_757385.1",
"transcript_support_level": null,
"aa_start": 358,
"aa_end": null,
"aa_length": 617,
"cds_start": 1073,
"cds_end": null,
"cds_length": 1854,
"cdna_start": 1154,
"cdna_end": null,
"cdna_length": 3038,
"mane_select": "ENST00000377190.8",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "H",
"aa_alt": "L",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SYVN1",
"gene_hgnc_id": 20738,
"hgvs_c": "c.1073A>T",
"hgvs_p": "p.His358Leu",
"transcript": "ENST00000377190.8",
"protein_id": "ENSP00000366395.3",
"transcript_support_level": 1,
"aa_start": 358,
"aa_end": null,
"aa_length": 617,
"cds_start": 1073,
"cds_end": null,
"cds_length": 1854,
"cdna_start": 1154,
"cdna_end": null,
"cdna_length": 3038,
"mane_select": "NM_172230.3",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "H",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SYVN1",
"gene_hgnc_id": 20738,
"hgvs_c": "c.1073A>T",
"hgvs_p": "p.His358Leu",
"transcript": "ENST00000294256.12",
"protein_id": "ENSP00000294256.8",
"transcript_support_level": 1,
"aa_start": 358,
"aa_end": null,
"aa_length": 616,
"cds_start": 1073,
"cds_end": null,
"cds_length": 1851,
"cdna_start": 1167,
"cdna_end": null,
"cdna_length": 3048,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "H",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SYVN1",
"gene_hgnc_id": 20738,
"hgvs_c": "c.920A>T",
"hgvs_p": "p.His307Leu",
"transcript": "ENST00000307289.10",
"protein_id": "ENSP00000302035.6",
"transcript_support_level": 1,
"aa_start": 307,
"aa_end": null,
"aa_length": 565,
"cds_start": 920,
"cds_end": null,
"cds_length": 1698,
"cdna_start": 962,
"cdna_end": null,
"cdna_length": 2841,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "H",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SYVN1",
"gene_hgnc_id": 20738,
"hgvs_c": "c.1073A>T",
"hgvs_p": "p.His358Leu",
"transcript": "NM_032431.3",
"protein_id": "NP_115807.1",
"transcript_support_level": null,
"aa_start": 358,
"aa_end": null,
"aa_length": 616,
"cds_start": 1073,
"cds_end": null,
"cds_length": 1851,
"cdna_start": 1154,
"cdna_end": null,
"cdna_length": 3035,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "H",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SYVN1",
"gene_hgnc_id": 20738,
"hgvs_c": "c.1073A>T",
"hgvs_p": "p.His358Leu",
"transcript": "ENST00000526060.5",
"protein_id": "ENSP00000436984.1",
"transcript_support_level": 5,
"aa_start": 358,
"aa_end": null,
"aa_length": 616,
"cds_start": 1073,
"cds_end": null,
"cds_length": 1851,
"cdna_start": 1266,
"cdna_end": null,
"cdna_length": 3144,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "H",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SYVN1",
"gene_hgnc_id": 20738,
"hgvs_c": "c.1073A>T",
"hgvs_p": "p.His358Leu",
"transcript": "XM_047427711.1",
"protein_id": "XP_047283667.1",
"transcript_support_level": null,
"aa_start": 358,
"aa_end": null,
"aa_length": 670,
"cds_start": 1073,
"cds_end": null,
"cds_length": 2013,
"cdna_start": 1356,
"cdna_end": null,
"cdna_length": 3362,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "H",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SYVN1",
"gene_hgnc_id": 20738,
"hgvs_c": "c.1073A>T",
"hgvs_p": "p.His358Leu",
"transcript": "XM_047427712.1",
"protein_id": "XP_047283668.1",
"transcript_support_level": null,
"aa_start": 358,
"aa_end": null,
"aa_length": 669,
"cds_start": 1073,
"cds_end": null,
"cds_length": 2010,
"cdna_start": 1356,
"cdna_end": null,
"cdna_length": 3359,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "H",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SYVN1",
"gene_hgnc_id": 20738,
"hgvs_c": "c.1073A>T",
"hgvs_p": "p.His358Leu",
"transcript": "XM_011545303.4",
"protein_id": "XP_011543605.1",
"transcript_support_level": null,
"aa_start": 358,
"aa_end": null,
"aa_length": 617,
"cds_start": 1073,
"cds_end": null,
"cds_length": 1854,
"cdna_start": 1356,
"cdna_end": null,
"cdna_length": 3240,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "H",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SYVN1",
"gene_hgnc_id": 20738,
"hgvs_c": "c.1073A>T",
"hgvs_p": "p.His358Leu",
"transcript": "XM_047427713.1",
"protein_id": "XP_047283669.1",
"transcript_support_level": null,
"aa_start": 358,
"aa_end": null,
"aa_length": 616,
"cds_start": 1073,
"cds_end": null,
"cds_length": 1851,
"cdna_start": 1356,
"cdna_end": null,
"cdna_length": 3237,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SYVN1",
"gene_hgnc_id": 20738,
"hgvs_c": "n.1502A>T",
"hgvs_p": null,
"transcript": "ENST00000449943.5",
"protein_id": null,
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4547,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SYVN1",
"gene_hgnc_id": 20738,
"hgvs_c": "n.*36A>T",
"hgvs_p": null,
"transcript": "ENST00000526121.5",
"protein_id": null,
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 578,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "SYVN1",
"gene_hgnc_id": 20738,
"dbsnp": "rs756191256",
"frequency_reference_population": null,
"hom_count_reference_population": null,
"allele_count_reference_population": null,
"gnomad_exomes_af": 0,
"gnomad_genomes_af": 0,
"gnomad_exomes_ac": 0,
"gnomad_genomes_ac": 0,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.02373632788658142,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.075,
"revel_prediction": "Benign",
"alphamissense_score": 0.0896,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.54,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 0.656,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0,
"spliceai_max_prediction": "Benign",
"dbscsnv_ada_score": null,
"dbscsnv_ada_prediction": null,
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": -4,
"acmg_classification": "Likely_benign",
"acmg_criteria": "BP4_Strong",
"acmg_by_gene": [
{
"score": -4,
"benign_score": 4,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong"
],
"verdict": "Likely_benign",
"transcript": "ENST00000377190.8",
"gene_symbol": "SYVN1",
"hgnc_id": 20738,
"effects": [
"missense_variant"
],
"inheritance_mode": "Unknown",
"hgvs_c": "c.1073A>T",
"hgvs_p": "p.His358Leu"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}